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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: renkema gh. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA. Wortmann SB, et al. Among authors: renkema gh. Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15. Am J Hum Genet. 2015. PMID: 25597510 Free PMC article.
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schäfer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA. Pol A, et al. Among authors: renkema gh. Nat Genet. 2018 Jan;50(1):120-129. doi: 10.1038/s41588-017-0006-7. Epub 2017 Dec 18. Nat Genet. 2018. PMID: 29255262 Free PMC article.
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ. Jonckheere AI, et al. Among authors: renkema gh. Brain. 2013 May;136(Pt 5):1544-54. doi: 10.1093/brain/awt086. Epub 2013 Apr 18. Brain. 2013. PMID: 23599390
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
Foriel S, Renkema GH, Lasarzewski Y, Berkhout J, Rodenburg RJ, Smeitink JAM, Beyrath J, Schenck A. Foriel S, et al. Among authors: renkema gh. Front Genet. 2019 Mar 27;10:245. doi: 10.3389/fgene.2019.00245. eCollection 2019. Front Genet. 2019. PMID: 30972103 Free PMC article.
Statin-Induced Myopathy Is Associated with Mitochondrial Complex III Inhibition.
Schirris TJ, Renkema GH, Ritschel T, Voermans NC, Bilos A, van Engelen BG, Brandt U, Koopman WJ, Beyrath JD, Rodenburg RJ, Willems PH, Smeitink JA, Russel FG. Schirris TJ, et al. Among authors: renkema gh. Cell Metab. 2015 Sep 1;22(3):399-407. doi: 10.1016/j.cmet.2015.08.002. Cell Metab. 2015. PMID: 26331605 Free article.
Stimulation of cholesterol biosynthesis in mitochondrial complex I-deficiency lowers reductive stress and improves motor function and survival in mice.
Schirris TJJ, Rossell S, de Haas R, Frambach SJCM, Hoogstraten CA, Renkema GH, Beyrath JD, Willems PHGM, Huynen MA, Smeitink JAM, Russel FGM, Notebaart RA. Schirris TJJ, et al. Among authors: renkema gh. Biochim Biophys Acta Mol Basis Dis. 2021 Apr 1;1867(4):166062. doi: 10.1016/j.bbadis.2020.166062. Epub 2021 Jan 13. Biochim Biophys Acta Mol Basis Dis. 2021. PMID: 33385517 Free article.
37 results